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Clinica chimica acta; international journal of clinical chemistry

Diagnosis of alcaptonuria: rapid analysis of homogentisic acid by HPLC.


PMID 2383921

Abstract

The clinical and biochemical features of five cases of alcaptonuria were reported. The concentration of homogentisic acid was determined in urine and also in plasma using a rapid, sensitive and specific HPLC method. In all five cases, the concentrations of homogentisic acid were elevated in urine rising up to 46.5 mmol/24 h. In plasma, homogentisic acid levels ranged from 33 to 38 mumols/l. In healthy individuals, homogentisic acid was not detectable in plasma and urine. The method described represents a very useful and suitable analytical tool for the diagnosis of alcaptonuria.

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H0751
Homogentisic acid, crystalline
C8H8O4